Canonical Allele Identifier: CA2577436673
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891711-CGCCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891712_58891715del , CM000682.2:g.58891712_58891715del GRCh38
NC_000020.10:g.57466767_57466770del , CM000682.1:g.57466767_57466770del GRCh37
NC_000020.9:g.56900162_56900165del NCBI36
NG_016194.1:g.56973_56976del
NG_016194.2:g.56973_56976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3900_2069-3897del ENSP00000265621.6:n.2069-3900_2069-3897del
ENST00000419558.7:c.*43-3900_*43-3897del ENSP00000416234.2:n.*43-3900_*43-3897del
ENST00000423897.7:c.2069-3900_2069-3897del ENSP00000412356.2:n.2069-3900_2069-3897del
ENST00000453292.7:c.781-3900_781-3897del ENSP00000392000.2:n.781-3900_781-3897del
ENST00000462499.6:c.-38-3900_-38-3897del ENSP00000499758.2:n.-38-3900_-38-3897del
ENST00000464624.7:c.2160-3900_2160-3897del ENSP00000499607.2:n.2160-3900_2160-3897del
ENST00000464788.6:c.-39+2499_-39+2502del ENSP00000499239.2:n.-39+2499_-39+2502del
ENST00000467227.6:c.-38-3900_-38-3897del ENSP00000499681.2:n.-38-3900_-38-3897del
ENST00000467321.6:c.-39+2666_-39+2669del ENSP00000499523.2:n.-39+2666_-39+2669del
ENST00000468895.6:c.-15_-12del ENSP00000499551.2:n.-15_-12del
ENST00000469431.6:c.-39+2306_-39+2309del ENSP00000499654.2:n.-39+2306_-39+2309del
ENST00000470512.6:c.-39+2359_-39+2362del ENSP00000499552.2:n.-39+2359_-39+2362del
ENST00000472183.6:c.-38-3900_-38-3897del ENSP00000499673.2:n.-38-3900_-38-3897del
ENST00000478585.6:c.-39+2359_-39+2362del ENSP00000499762.2:n.-39+2359_-39+2362del
ENST00000480232.6:c.-39+2163_-39+2166del ENSP00000499545.2:n.-39+2163_-39+2166del
ENST00000481039.6:c.-39+2804_-39+2807del ENSP00000499767.2:n.-39+2804_-39+2807del
ENST00000482112.6:c.-38-3900_-38-3897del ENSP00000499794.2:n.-38-3900_-38-3897del
ENST00000485673.6:c.-39+2163_-39+2166del ENSP00000499334.2:n.-39+2163_-39+2166del
ENST00000488546.6:c.-39+2894_-39+2897del ENSP00000499332.2:n.-39+2894_-39+2897del
ENST00000604005.6:c.-39+2380_-39+2383del ENSP00000474219.2:n.-39+2380_-39+2383del
ENST00000663479.2:c.-38-3900_-38-3897del ENSP00000499353.2:n.-38-3900_-38-3897del
ENST00000667293.2:c.-39+2808_-39+2811del ENSP00000499293.2:n.-39+2808_-39+2811del
ENST00000676826.2:c.2069-3900_2069-3897del ENSP00000504675.2:n.2069-3900_2069-3897del
ENST00000683015.1:c.909+923_909+926del ENSP00000506815.1:n.909+923_909+926del
ENST00000306090.12:c.44-3900_44-3897del ENSP00000304472.12:n.44-3900_44-3897del
ENST00000349036.8:c.2069-3900_2069-3897del ENSP00000265621.5:n.2069-3900_2069-3897del
ENST00000354359.12:c.-15_-12del ENSP00000346328.7:n.-15_-12del
ENST00000371085.8:c.-15_-12del MANE Select ENSP00000360126.3:n.-15_-12del
ENST00000371100.9:c.2069-3900_2069-3897del MANE Plus Clinical ENSP00000360141.3:n.2069-3900_2069-3897del
ENST00000419558.6:c.*43-3900_*43-3897del ENSP00000416234.2:n.*43-3900_*43-3897del
ENST00000423897.6:c.2069-3900_2069-3897del ENSP00000412356.2:n.2069-3900_2069-3897del
ENST00000453292.6:c.*43-3900_*43-3897del ENSP00000392000.2:n.*43-3900_*43-3897del
ENST00000461152.6:c.909+923_909+926del ENSP00000499274.1:n.909+923_909+926del
ENST00000481768.6:c.2227-3900_2227-3897del ENSP00000499644.2:n.2227-3900_2227-3897del
ENST00000490374.6:n.223-3900_223-3897del
ENST00000657090.1:c.-38-3900_-38-3897del ENSP00000499380.1:n.-38-3900_-38-3897del
ENST00000663479.1:c.-38-3900_-38-3897del ENSP00000499353.1:n.-38-3900_-38-3897del
ENST00000667293.1:c.11-3900_11-3897del ENSP00000499293.1:n.11-3900_11-3897del
ENST00000676826.1:c.2069-3900_2069-3897del ENSP00000504675.1:n.2069-3900_2069-3897del
ENST00000265620.11:c.-15_-12del ENSP00000265620.7:n.-15_-12del
ENST00000313949.11:c.*43-3900_*43-3897del ENSP00000323571.7:n.*43-3900_*43-3897del
ENST00000349036.7:c.188-3900_188-3897del ENSP00000265621.4:n.188-3900_188-3897del
ENST00000354359.11:c.-15_-12del ENSP00000346328.7:n.-15_-12del
ENST00000371075.7:c.*43-3900_*43-3897del MANE Plus Clinical ENSP00000360115.3:n.*43-3900_*43-3897del
ENST00000371085.7:c.-15_-12del ENSP00000360126.3:n.-15_-12del
ENST00000371095.7:c.-15_-12del ENSP00000360136.3:n.-15_-12del
ENST00000371098.6:c.*43-3900_*43-3897del ENSP00000360139.2:n.*43-3900_*43-3897del
ENST00000371100.8:c.2069-3900_2069-3897del ENSP00000360141.3:n.2069-3900_2069-3897del
ENST00000371102.8:c.2069-3900_2069-3897del ENSP00000360143.4:n.2069-3900_2069-3897del
ENST00000419558.5:c.384-3900_384-3897del
ENST00000423897.5:c.157-3900_157-3897del
ENST00000450130.5:c.228-3900_228-3897del
ENST00000453292.5:c.544-3900_544-3897del ENSP00000392000.1:n.544-3900_544-3897del
ENST00000461152.5:n.147+923_147+926del
ENST00000462499.5:n.259-3900_259-3897del
ENST00000464624.6:n.2202_2205del
ENST00000464788.5:n.67+2499_67+2502del
ENST00000464960.5:n.406+2894_406+2897del
ENST00000467227.5:n.123-3900_123-3897del
ENST00000467321.5:n.154+2666_154+2669del
ENST00000468895.5:n.50+2804_50+2807del
ENST00000469431.5:n.256+2306_256+2309del
ENST00000470512.5:n.210+2359_210+2362del
ENST00000472183.5:n.392-3900_392-3897del
ENST00000477931.5:n.254+2359_254+2362del
ENST00000478585.5:n.194+2359_194+2362del
ENST00000480232.5:n.155+2163_155+2166del
ENST00000480975.5:n.183+2359_183+2362del
ENST00000481039.5:n.56+2808_56+2811del
ENST00000481768.5:n.1324-3900_1324-3897del
ENST00000482112.5:n.259-3900_259-3897del
ENST00000484504.5:n.127+2359_127+2362del
ENST00000485673.5:n.426+2163_426+2166del
ENST00000488546.5:n.40+2894_40+2897del
ENST00000490374.5:n.255-3900_255-3897del
ENST00000491348.5:n.534-3900_534-3897del
ENST00000493744.5:n.233-3900_233-3897del
ENST00000604005.5:c.-39+2380_-39+2383del ENSP00000474219.1:n.-39+2380_-39+2383del
NM_000516.4:c.-15_-12del NP_000507.1:n.-15_-12del
NM_000516.5:c.-15_-12del NP_000507.1:n.-15_-12del
NM_001077488.2:c.-15_-12del NP_001070956.1:n.-15_-12del
NM_001077488.3:c.-15_-12del NP_001070956.1:n.-15_-12del
NM_001077489.2:c.-15_-12del NP_001070957.1:n.-15_-12del
NM_001077489.3:c.-15_-12del NP_001070957.1:n.-15_-12del
NM_001077490.1:c.*1-3900_*1-3897del NP_001070958.1:n.*1-3900_*1-3897del
NM_001077490.2:c.*1-3900_*1-3897del NP_001070958.1:n.*1-3900_*1-3897del
NM_001309840.1:c.-39+2359_-39+2362del NP_001296769.1:n.-39+2359_-39+2362del
NM_001309842.1:c.-15_-12del NP_001296771.1:n.-15_-12del
NM_001309861.1:c.-38-3900_-38-3897del NP_001296790.1:n.-38-3900_-38-3897del
NM_001309883.1:c.*159-3900_*159-3897del NP_001296812.1:n.*159-3900_*159-3897del
NM_016592.2:c.*43-3900_*43-3897del NP_057676.1:n.*43-3900_*43-3897del
NM_016592.3:c.*43-3900_*43-3897del NP_057676.1:n.*43-3900_*43-3897del
NM_080425.2:c.2069-3900_2069-3897del NP_536350.2:n.2069-3900_2069-3897del
NM_080425.3:c.2069-3900_2069-3897del NP_536350.2:n.2069-3900_2069-3897del
NM_080426.2:c.-15_-12del NP_536351.1:n.-15_-12del
NM_080426.3:c.-15_-12del NP_536351.1:n.-15_-12del
NR_003259.1:c.-4294967067+2359_-4294967067+2362del
NR_132273.1:n.406+2894_406+2897del
XM_017027812.2:c.2069-3900_2069-3897del XP_016883301.1:n.2069-3900_2069-3897del
XM_017027813.2:c.2069-3900_2069-3897del XP_016883302.1:n.2069-3900_2069-3897del
XM_017027814.2:c.2069-3900_2069-3897del XP_016883303.1:n.2069-3900_2069-3897del
XM_017027815.1:c.44-3900_44-3897del XP_016883304.1:n.44-3900_44-3897del
XM_017027816.1:c.-319_-316del XP_016883305.1:n.-319_-316del
XM_017027817.1:c.-39+2359_-39+2362del XP_016883306.1:n.-39+2359_-39+2362del
XM_017027819.1:c.-39+2380_-39+2383del XP_016883308.1:n.-39+2380_-39+2383del
XM_017027821.1:c.*43-3900_*43-3897del XP_016883310.1:n.*43-3900_*43-3897del
XM_017027822.1:c.*43-3900_*43-3897del XP_016883311.1:n.*43-3900_*43-3897del
XM_024451872.1:c.44-3900_44-3897del XP_024307640.1:n.44-3900_44-3897del
XM_024451875.1:c.-39+2380_-39+2383del XP_024307643.1:n.-39+2380_-39+2383del
XR_002958471.1:n.611_614del
NM_000516.6:c.-15_-12del NP_000507.1:n.-15_-12del
NM_001077488.4:c.-15_-12del NP_001070956.1:n.-15_-12del
NM_001077489.4:c.-15_-12del NP_001070957.1:n.-15_-12del
NM_001309840.2:c.-39+2359_-39+2362del NP_001296769.1:n.-39+2359_-39+2362del
NM_001309842.2:c.-15_-12del NP_001296771.1:n.-15_-12del
NM_001309861.2:c.-38-3900_-38-3897del NP_001296790.1:n.-38-3900_-38-3897del
NM_016592.4:c.*43-3900_*43-3897del NP_057676.1:n.*43-3900_*43-3897del
NM_080426.4:c.-15_-12del NP_536351.1:n.-15_-12del
NM_000516.7:c.-15_-12del MANE Select NP_000507.1:n.-15_-12del
NM_001077488.5:c.-15_-12del NP_001070956.1:n.-15_-12del
NM_001077490.3:c.*1-3900_*1-3897del NP_001070958.1:n.*1-3900_*1-3897del
NM_016592.5:c.*43-3900_*43-3897del MANE Plus Clinical NP_057676.1:n.*43-3900_*43-3897del
NM_080425.4:c.2069-3900_2069-3897del MANE Plus Clinical NP_536350.2:n.2069-3900_2069-3897del
Search 100 bp 5'
Search 100 bp 3'